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Sequencing of paternal sperm DNA allows the identification of male germline mosaicism and may assist with recurrence risk prediction of de novo genetic variants associated with autism in some families.
Enteroviral infection persistence as determined by host genetic susceptibility, rather than independent, short-lived infections, may contribute to islet autoimmunity and be a precursor to the development of type 1 diabetes.
There is a transgenerational increase in the susceptibility of female offspring to developing PCOS that occurs via the female germline and is linked to fetal exposure to excess androgen.
Ultra-deep sequencing of paired plasma-circulating free DNA and white blood cells allows the identification of tumor-derived somatic mutations with high accuracy by filtering out variants consistent with clonal hematopoiesis.
New findings regarding the risks of over-the-counter probiotics in critically ill patients underscore the need for microbiota-targeted therapies that are based on efficacy in a disease- and host-specific context.
Dapagliflozin, a sodium-glucose co-transporter-2 inhibitor, reduced the risk of cardiovascular death or heart failure events in 4,744 patients with chronic heart failure with reduced ejection fraction.
Activated CD8+ T cells in the tumor and cytotoxic T cell signature correlate with immune response in patients receiving neoadjuvant immunotherapy for treatment of muscle invasive bladder cancer.
Homozygous APOE3-Christchurch (R136S) mutation protects a presenilin 1 (PSEN1) mutation carrier from developing Alzheimer’s disease until her seventies.
An engineered truncated gene derived from the dystrophin-related protein (utrophin), prevents pathology without an immune response in an animal model of Duchenne muscular dystrophy (DMD) gene therapy.
Antibodies elicited by the widely deployed rVSV-EBOV Ebola virus vaccine mirror those of disease survivors, animal models and other vaccine platforms. Notably, neutralizing antibodies are consistently elicited from a recurring pair of germline genes.
A novel oral capsule can deploy microneedle patches that release drugs into the intestinal wall for uptake into the bloodstream as shown in animal studies, thereby avoiding injections.
Single-cell RNA sequencing characterizes clonal dynamics and distinct cellular states contributing to intratumoral heterogeneity in glioblastoma and medulloblastoma.
Mass administration of azithromycin to young children at risk of dying could reduce harmful intestinal pathogenic bacteria and impact survival, but also increase antibiotic resistance.
A microscope equipped with augmented display and accurate deep-learning models for real-time detection and highlighting of cancerous cells enables detection of breast cancer lymph node metastasis and prostate cancer.
Infants with congenital Zika virus infection are at risk for multiple abnormalities related to impairment in neurodevelopment. Although some findings apparent at birth may resolve with time, infants with no abnormalities apparent at birth may develop problems in early childhood.
TCF21, a gene associated with coronary heart disease, promotes plaque stability and reduces clinical events by enhancing smooth muscle cell phenotype modulation into “fibromyocytes” in atherosclerosis.
Large-scale analysis of 49 countries in Africa shows improvements in the prevalence of babies under 6 months of age being fed only breast milk, but there are large disparities in progress across and within countries.
